A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577349



Internal ID18705547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:58438050..58445589hg38UCSC Ensembl
Innerchr10:60197810..60205349hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg387540
hg197540
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv247e212
Supporting Variantsessv9793860, essv9793865, essv9793851, essv9793858, essv9793862, essv9793856, essv9793859, essv9793863, essv9793868, essv9793852, essv9793861, essv9793854, essv9793853, essv9793857, essv9793864
Samples400075MR, 401734PG, 400683EC, 401792KR, 401133JG, 400082SD, 400705KK, 400571WV, 400450FG, 401182OC, 401786WD, 400130HA, 401517PR, 400234CA, 401490TL
Known Genes
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3577349
Frequency
Sample Size873
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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